• Journal of Chest Surgery
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• v.40 no.11
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• pp.793-797
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• 2007

A communicating bronchopulmonary foregut malformation (CBPFM) is a rare congenital anomaly that is characterized by a fistula between isolated respiratory tissue and the esophagus or stomach, The presence of accessory lung tissue arising from the primitive gastrointestinal tube is a common factor in the development of all forms of bronchopulmonary foregut malformations. Recurrent pneumonia associated with cystic radiographic structures is a characteristic of the condition. Further imaging studies using esophagogram, bronchography, computerized tomography, MRI, and arteriography can help in making a diagnostic evaluation. The treatment is a surgical resection of the involved lung tissue, and fistula closure with a good prognosis. We encountered a case of CBPFM, who presented with an extralobar pulmonary sequestration and bronchogenic cyst communicating with a tubular esophageal duplication that was associated with a complete left pericardial defect.

• Journal of Genetic Medicine
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• v.12 no.2
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• pp.123-127
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• 2015

Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.

• Archives of Plastic Surgery
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• v.47 no.3
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• pp.272-276
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• 2020

Anorectal malformation or imperforate anus is a congenital anomaly of rectum and anus. Mullerian duct anomalies are abnormal development of uterus, cervix, and vagina. Imperforate anus with double uterus is extremely rare and cannot explain by normal embryologic development. Moreover, guideline in treatment is inconclusive. We report an extremely rare case of a young adult female who presented with recurrent pelvic inflammatory disease caused by rectovaginal fistula in congenital imperforate anus and didelphys uterus, and successfully neoanal reconstruction with gracilis muscle flap. Aims for treatment are closed rectovaginal fistula, and anal sphincter reconstruction. To our best knowledge, the imperforate anus with double uterus is extremely rare anomaly. Furthermore, successfully anal sphincter reconstruction with functional gracilis muscle in the imperforate anus with double uterus has never been reported in English literature.

• Journal of Chest Surgery
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• v.23 no.4
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• pp.698-706
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• 1990

Congenital Cystic Lung Disease is a spectrum of closed related anomalies that arise during an early stage of embryonic lung bud maturation-namely bronchogenic cyst, congenital lobar emphysema, pulmonary sequestration and congenital cystic adenomatoid malformation. And they show similar surgical strategies. So they are called as the term bronchopulmonary-foregut malformations, firstly proposed by Gerle[1968]. From Aug. 1979 to Aug 1989, 47 patients were operated upon on Dept. of Thoracic & Cardiovascular Surgery at the CUMC. There were 21 females and 26 males ranging in age from age of 21 day to age of 56 year [15 cases under 15 years old]. 30 patients had bronchogenic cysts - 23 of intrapulmonary type, 7 of mediastinal type in location. Affected lobes and locations were as follows: 11 in upper lobe, 3 in middle lobe, 11 in lower lobe and anterosuperior, middle, and posterior mediastinal type were 3, 2, 2 respectively. There were 9 pulmonary sequestrations[all intralobar type] with the distribution of 5 in right lower lobe and 4 in left lower lobe. And associated anomalies were presented with arterial supply originating from thoracic aorta[8 cases], abdominal aorta[1 case] and with venous drainage into azygos vein[1 case]. They all were operated upon lower lobectomy [8 case], pneumonectomy[1 case] in case of pulmonary hypoplasia Congenital lobar emphysema and congenital cystic adenomatoid malformation had 4 cases respectively. Their affected lobes were as follows: the former were 3 in upper lobes, 1 in middle lobe and the latter were 3 in upper lobe, 1 in lower lobe. They were treated with lobectomy and segmentectomy. Diagnosis was aided by chest X - ray, bronchography, aortography, DSA and CT scan, They all were confirmed by pathologic exams. There were no hospital death but few minor morbidities such as, atelectasis-pneumonia[2], wound infection[2], prolonged chest tube placement[2]. We experienced surgical treatments of 47 cases for 10 years and reported them with literature review.

• Journal of Chest Surgery
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• v.27 no.9
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• pp.804-807
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• 1994

Pulmonary sequestration is an unusual congenital malformation characterized by the presence of nonfunctioning lung tissue which usually has no communication with the normal bronchial tree and receives its blood supply from an anomalous systemic artery. Extralobar form is a very rare congenital malformation. We have experienced a 54 year old female patient with a mass in the upper lobe complaining of cough and blood tinged sputum. A triangular shaped mass was located in the left upper lobe, medially. The arterial blood supply were from the thoracic aorta and the pulmonary artery but there was no the tracheobronchial communication. The venous drainage was through the pulmonary vein. The mass was confirmed as extralobar pulmonary sequestration associated with a pericardial defect.

• Journal of Chest Surgery
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• v.17 no.2
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• pp.326-330
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• 1984

Congenital Cystic Adenomatoid Malformation [C.C.A.M], one of lung bud anomalies, is an unusual lesion, only about 200 cases baring been reported by 1980, and characterized by marked proliferation of terminal respiratory structures. Recently we experienced two infants with C.C.A,M., whose clinical courses were quite different. On case 1, the patient was 25-day-old female, and suffered from progressive respiratory distress for 10 days duration. A right middle lobectomy was performed, with a satisfactory postoperative course. On case II, the patient was 7omonth-old male, and admitted for evaluation of known pulmonary anomaly, which was detected for the first time during hospitalization for treatment of pneumonia at 1 month of his age. He underwent a lingular segmentectomy, but died of respiratory insufficiency on postop 10th day. We believe that awareness of the presence of C.C.A.M. is important in making the differential diagnosis of progressive respiratory disease or of recurrent pulmonary infection in infants.

• The Journal of the Korean bone and joint tumor society
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• v.10 no.1
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• pp.50-55
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• 2004

Fibrodysplasia ossificans progressiva is a very rare genetic disorder, but is possible to diagnose with mass on neck or scalp in early neonate or child and accompanying characteristic congenital malformation of great toe. But because inappropriate treatment and complications from misdiagnosis may aggravate the progress of the disease, so the disorder require careful inspection for accurate diagnosis. We describe a case that was misdiagnosed properly and treated inappropriately and the natural history of the disease in adult.

• Journal of Chest Surgery
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• v.28 no.2
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• pp.196-200
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• 1995

Congenital Cystic Adenomatoid Malformation [C.C.A.M. is rare, cause acute respiratory distress in the newborn infants. The histologic features are cystic areas and marked proliferation of terminal respiratory structures. On case 1, the patient was 8-month-old male, and suffered from acute respiratory distress and cyanosis. The pulmonary cystic lesion was detected in right lung at birth and has been evaluated since birth. The study for diagnosis were chest x-ray and chest CT. A right upper lobectomy was urgently performed and he was discharged with a satisfactory postoperative course. On case 2, the patient was 20-year-old female, and suffered from cough and sputum for 2 months. The study for diagnosis were chest x-ray, chest CT, and pulmonary angiography. The cystic lesion was detected in left lung and difficult to distinguish from pulmonary sequestration. A left lower lobectomy was performed and she was discharged with a satisfactory postoperative course. We report two cases of C.C.A.M. with differential clinical course.

• Journal of Dental Anesthesia and Pain Medicine
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• v.17 no.3
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• pp.215-217
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• 2017

Branchio-oto-renal syndrome (BOR) is a rare autosomal dominant disorder. The features include branchial cysts, hearing loss, ear malformation, preauricular pits, retrognathia, congenital heart disease, and renal abnormalities. However, anesthetic management of these patients has seldom been reported. We report a case in which general anesthesia was performed for dental treatment in a patient with BOR. Airway management, renal function, and hemodynamic changes can be of critical concern during anesthetic management. A 13-year-old girl diagnosed with BOR had severe right hearing loss, right external ear malformation, renal abnormalities, and postoperative patent ductus arteriosus (PDA). Dental extraction under general anesthesia was scheduled for a supernumerary tooth. The procedure was completed with sufficient urine volume, adequate airway management, and stable hemodynamics.

• Journal of Chest Surgery
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• v.18 no.4
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• pp.785-791
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• 1985

The congenital cystic adenomatoid malformation [C.C.A.M.] of the lung is a rare lesion consisted of multiple cysts in the pulmonary parenchyma lined cuboidal or columnar epithelium. The C.C.A.M. presents clinically in three ways:[1] stillborn or perinatal death, [2] progressive respiratory distress in the newborn, and [3] acute and chronic pulmonary nfections in the older infant and child. We recently experienced two cases of C.C.A.M. of the lung, and have good surgical results. The first case was 29 days old male and the second case was 16 month old female who have been suffered from severe respiratory difficulty and pulmonary infection repeatedly each other. The lobectomies were performed, and the postoperative course was uneventful.